Variant: rs121909503 

    present in Gene: CHRND
    present in Chromosome: 2
    Position on Chromosome: 232530131
    Alleles of this Variant: C/A;T

rs121909503 in CHRND gene and MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL PMID 18398509 2008 Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.

PMID 12499478 2002 Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation.

PMID 11435464 2001 Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.